A20A (p.Ala20Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
A20A (p.Ala20Ala) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- rs779022418
- gnomAD 7-94395091-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 16.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available